ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026888
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
466842
ClinVar RCV:
RCV000534418
ClinVar Variation:
458621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Ser126Leu
CA8235187
NM_001323544.2:c.377C>T